rs28937580

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs28937580(C;T)

Make rs28937580(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

56594326

Gene

NOG

is a	snp
is	mentioned by
dbSNP	rs28937580
dbSNP (classic)	rs28937580
ClinGen	rs28937580
ebi	rs28937580
HLI	rs28937580
Exac	rs28937580
Gnomad	rs28937580
Varsome	rs28937580
LitVar	rs28937580
Map	rs28937580
PheGenI	rs28937580
Biobank	rs28937580
1000 genomes	rs28937580
hgdp	rs28937580
ensembl	rs28937580
geneview	rs28937580
scholar	rs28937580
google	rs28937580
pharmgkb	rs28937580
gwascentral	rs28937580
openSNP	rs28937580
23andMe	rs28937580
SNPshot	rs28937580
SNPdbe	rs28937580
MSV3d	rs28937580
GWAS Ctlg	rs28937580

Max Magnitude

0

OMIM	602991
Desc	SYMPHALANGISM, PROXIMAL
Variant	0012
Related	also

OMIM	602991
Desc
Variant	0017
Related	also

ClinVar
Risk	rs28937580(G;G) rs28937580(T;T)
Alt	rs28937580(G;G) rs28937580(T;T)
Reference	Rs28937580(C;C)
Significance	Pathogenic
Disease	Brachydactyly type B2 Cushing's symphalangism Stapes ankylosis with broad thumb and toes
Variation	info
Gene	NOG
CLNDBN	Brachydactyly type B2 Cushing's symphalangism Stapes ankylosis with broad thumb and toes
Reversed	0
HGVS	NC_000017.10:g.54671687C>G; NC_000017.10:g.54671687C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007100.2, RCV000007093.3, RCV000007094.3, RCV000007095.3,